(Q28377835)

English

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

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scholarly article

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Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I (English)

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based on heuristic

inferred from title

Glutaric aciduria

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3-hydroxyglutaric acid

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author name string

I Baric

1

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L Wagner

2

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P Feyh

3

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M Liesert

4

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W Buckel

5

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G F Hoffmann

6

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language of work or name

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publication date

December 1999

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Journal of Inherited Metabolic Disease

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22

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8

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867-81

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describes a project that uses

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Glutaric aciduria. A "common" metabolic disorder?

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric aciduria type I: Unusual biochemical presentation

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of glutaryl-CoA dehydrogenase from Pseudomonas sp., an enzyme involved in the anaerobic degradation of benzoate

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organic acids in urine: sample preparation for GC/MS

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Mitochondrial and peroxisomal metabolism of glutaryl-CoA.

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Significance of bound glutarate in the diagnosis of glutaric aciduria type I

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of glutaric acidemia type I: effect of riboflavin and carnitine

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Acute profound dystonia in infants with glutaric acidemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nerve cell lesions caused by 3-hydroxyglutaric acid: a possible mechanism for neurodegeneration in glutaric acidaemia I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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[Development of brain atrophy, therapy and therapy monitoring in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)]

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https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Glutaric aciduria; A “new” disorder of amino acid metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

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Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/10604139

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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